The lab is intertwined with the computational component of Personal Genome Consultation Service. This service aims at discovering genes underlying previously uncharacterized human Mendelian diseases of rare diseases with unknown genetic etiology. We use genomic data of individual pedigrees to identify mutations potentially causing the phenotypes.

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The lab is intertwined with the computational component of Brigham Genomic Medicine (BGM) program. This service aims at discovering genes underlying previously uncharacterized human Mendelian diseases of rare diseases with unknown genetic etiology. We use genomic data of individual pedigrees to identify mutations potentially causing the phenotypes.